Philadelphia College of Osteopathic Medicine has received over $2M in funding from the National Institute of Neurological Disorders and Stroke (NINDS), at the National Institutes of Health (NIH) for its ongoing work in identifying potential therapeutic targets for the neuromuscular disease, spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s Disease.
Leading this research is PCOM’s Heather Montie, PhD, professor of Neuroscience, Physiology and Pharmacology, in the Department of Bio-Medical Sciences (Philadelphia), who has spent nearly two decades of her research career working to identify therapeutic targets for SBMA.
The new NIH grant will span across five years, three of which will include collaborative research efforts with Case Western Reserve University, led by Co-Investigator Helen Miranda, PhD, assistant professor, Department of Genetics and Genome Sciences, School of Medicine.
The funding will support Dr. Montie’s investigation of the role of the immunomodulating protein, CD38, in metabolic dysregulation in SBMA and provide a deeper understanding of inflammatory processes in SBMA. The studies also aim to test a more clinically relevant approach to targeting CD38 in multiple models of SBMA.
Dr. Montie hopes that therapeutic interventions identified for SBMA may also support therapeutic development for other neuromuscular and metabolic disorders.
There is a ton of preliminary research and effort that goes into these grant applications, and I am grateful to those student and staff researchers who have provided their time and support to make this application a success.
Healther Montie, PhD
This grant will also result in continued student research opportunities at PCOM, allowing doctor of osteopathic medicine or biomedical sciences students to gain meaningful research experiences that may one day support trials in SBMA patients.
“Research experiences are critical for future physicians because they highlight the importance of understanding disease pathogenesis, give perspective to the process of therapeutic development, and support their ability to stay up-to-date on current scientific literature, to most effectively care for their patients,” said Dr. Montie. “There is a ton of preliminary research and effort that goes into these grant applications, and I am grateful to those student and staff researchers who have provided their time and support to make this application a success.”
There is currently no cure or effective therapy for this adult-onset, neuromuscular disease, which impacts roughly 1 in 40,000 people worldwide. Male patients suffer progressive difficulties with walking, speaking, and swallowing due to the X-linkage of the disease gene (CAG expanded androgen receptor) and the necessity for high levels of androgens. Woman carriers may also manifest more mild symptoms.
Dr. Montie is optimistic that continued research in her lab and others will one day soon uncover a therapeutic intervention that improves the quality of life for SBMA patients.
“We’ve made a lot of progress in our SBMA studies and it is because of PCOM, and organizations like the National Institutes of Health and the Kennedy’s Disease Association that we are able to continue this work,” shared Dr. Montie. “I look forward to seeing what new developments we uncover in the next five years.”
Preliminary work was supported by the Division of Research (DOR) and Center for Chronic Disorders of Aging (CCDA) at PCOM, and the Kennedy’s Disease Association. This current work is supported by the NIH (1R01NS140084-01).
For the past 125 years, Philadelphia College of Osteopathic Medicine (PCOM) has trained thousands of highly competent, caring physicians, health practitioners and behavioral scientists who practice a “whole person” approach to care—treating people, not just symptoms. PCOM, a private, not-for-profit accredited institution of higher education, operates three campuses (PCOM, PCOM Georgia and PCOM South Georgia) and offers doctoral degrees in clinical psychology, educational psychology, osteopathic medicine, pharmacy, physical therapy, and school psychology. The college also offers graduate degrees in applied behavior analysis, applied positive psychology, biomedical sciences, forensic medicine, medical laboratory science, mental health counseling, physician assistant studies, and school psychology. PCOM students learn the importance of health promotion, research, education and service to the community. Through its community-based Healthcare Centers, PCOM provides care to medically underserved populations. For more information, visit pcom.edu or call 215-871-6100.
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